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Inborn Errors of Metabolism

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101. Treating inborn errors of liver metabolism with stem cells: current clinical development (PubMed)

Treating inborn errors of liver metabolism with stem cells: current clinical development Advanced therapies including stem cells are currently a major biotechnological development. Adult liver stem cells can differentiate into hepatocyte like cells and be infused in the recipient's liver to bring a missing metabolic function. These cells can be produced in large quantities in vitro. Allogeneic stem cells are required to treat genetic diseases, and this approach allows to use one single source (...) generation product issued from stem cell technology, and the start of EMA approved clinical trials to evaluate the safety and potency of liver stem cells for the treatment of inborn errors of the liver metabolism.

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2014 Journal of Inherited Metabolic Disease

102. Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia (PubMed)

Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia 25414581 2014 11 21 2018 11 13 1205-7088 19 9 2014 Nov Paediatrics & child health Paediatr Child Health Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia. 469-71 van Karnebeek Clara Dm CD

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2014 Paediatrics & child health

103. Pediatrics, Inborn Errors of Metabolism (Treatment)

Pediatrics, Inborn Errors of Metabolism (Treatment) Inborn Errors of Metabolism Treatment & Management: Approach Considerations, Medical Care, Diet Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvODA0NzU3LXRyZWF0bWVudA== processing > Inborn Errors of Metabolism Treatment & Management Updated: Sep 20, 2017 Author: Debra L Weiner, MD, PhD; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Inborn Errors of Metabolism Treatment Approach Considerations Goals of treatment for patients with an inborn error of metabolism (IEM) are prevention of further accumulation of harmful substances, correction of metabolic abnormalities, and elimination of toxic metabolites. Even

2014 eMedicine Emergency Medicine

104. Pediatrics, Inborn Errors of Metabolism (Diagnosis)

Pediatrics, Inborn Errors of Metabolism (Diagnosis) Inborn Errors of Metabolism: Practice Essentials, Pathophysiology, Etiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvODA0NzU3LW92ZXJ2aWV3 processing (...) > Inborn Errors of Metabolism Updated: Sep 20, 2017 Author: Debra L Weiner, MD, PhD; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Inborn Errors of Metabolism Overview Practice Essentials Inborn errors of metabolism (IEMs) are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. Effects are due to toxic accumulations of substrates before the block

2014 eMedicine Emergency Medicine

105. Pediatrics, Inborn Errors of Metabolism (Overview)

Pediatrics, Inborn Errors of Metabolism (Overview) Inborn Errors of Metabolism: Practice Essentials, Pathophysiology, Etiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvODA0NzU3LW92ZXJ2aWV3 processing (...) > Inborn Errors of Metabolism Updated: Sep 20, 2017 Author: Debra L Weiner, MD, PhD; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Inborn Errors of Metabolism Overview Practice Essentials Inborn errors of metabolism (IEMs) are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. Effects are due to toxic accumulations of substrates before the block

2014 eMedicine Emergency Medicine

106. Pediatrics, Inborn Errors of Metabolism (Follow-up)

Pediatrics, Inborn Errors of Metabolism (Follow-up) Inborn Errors of Metabolism Treatment & Management: Approach Considerations, Medical Care, Diet Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvODA0NzU3LXRyZWF0bWVudA== processing > Inborn Errors of Metabolism Treatment & Management Updated: Sep 20, 2017 Author: Debra L Weiner, MD, PhD; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Inborn Errors of Metabolism Treatment Approach Considerations Goals of treatment for patients with an inborn error of metabolism (IEM) are prevention of further accumulation of harmful substances, correction of metabolic abnormalities, and elimination of toxic metabolites. Even

2014 eMedicine Emergency Medicine

107. Human Induced Pluripotent Stem Cell Approaches to Model Inborn and Acquired Metabolic Heart Diseases (PubMed)

Human Induced Pluripotent Stem Cell Approaches to Model Inborn and Acquired Metabolic Heart Diseases The article provides an overview of advances in the induced pluripotent stem cell field to model cardiomyopathies of inherited inborn errors of metabolism and acquired metabolic syndromes in vitro.Several inborn errors of metabolism have been studied using 'disease in a dish' models, including Pompe disease, Danon disease, Fabry disease, and Barth syndrome. Disease phenotypes of complex (...) metabolic syndromes, such as diabetes mellitus and aldehyde dehydrogenase 2 deficiency, have also been observed.Differentiation of patient and disease-specific induced pluripotent stem cell-derived cardiomyocytes has provided the capacity to model deleterious cardiometabolic diseases to understand molecular mechanisms, perform drug screens, and identify novel drug targets.

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2016 Current opinion in cardiology

108. Concise Review: Updated Advances and Current Challenges in Cell Therapy for Inborn Liver Metabolic Defects (PubMed)

Concise Review: Updated Advances and Current Challenges in Cell Therapy for Inborn Liver Metabolic Defects : The development of liver cell transplantation (LCT), considered a major biotechnological breakthrough, was intended to provide more accessible treatments for liver disease patients. By preserving the native recipient liver and decreasing hospitalization time, this innovative approach has progressively gained interest among clinicians. LCT initially targets inborn errors of liver (...) metabolism, enabling the compensation of deficient metabolic functions for up to 18 months post-transplantation, supporting its use at least as a bridge to transplantation. The rigorous clinical development and widespread use of LCT depends strongly on controlled and consistent clinical trial data, which may help improve several critical factors, including the standardization of raw biological material and immunosuppression regimens. Substantial effort has also been made in defining and optimizing

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2016 Stem cells translational medicine

109. The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies (...) before adding more. The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT01780168 Recruitment Status : Recruiting First Posted : January 30

2013 Clinical Trials

110. Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer. (PubMed)

Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer. To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still (...) be important in healthy individuals. Four inborn errors of metabolism, Smith-Lemli-Opitz syndrome, cerebrotendinous xanthomatosis and Niemann Pick disease types B (NPB) and C (NPC) result from mutations in different genes but can generate elevated levels of the same sterol metabolite, 7-oxocholesterol, in plasma. How this molecule is metabolized further is of great interest as its metabolites may have an important role in embryonic development. A second metabolite, abundant in NPC and NPB diseases

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2017 Current opinion in clinical nutrition and metabolic care

111. Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism (PubMed)

Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism Clinical observations spanning almost half a century have demonstrated a consistent association of type 1 Gaucher disease (GD1) and cancers. However, the cellular and molecular bases of the association are not understood. Gaucher disease (GD) is a lysosomal storage disorder due to an inherited deficiency of acid β-glucosidase that underlies the accumulation of glucosylceramide in lysosomes

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2013 Critical Reviews in Oncogenesis

112. A Genome-Scale Modeling Approach to Study Inborn Errors of Liver Metabolism: Toward an In Silico Patient (PubMed)

A Genome-Scale Modeling Approach to Study Inborn Errors of Liver Metabolism: Toward an In Silico Patient Inborn errors of metabolism (IEM) are genetic diseases caused by mutations in enzymes or transporters affecting specific metabolic reactions that cause a block in the physiological metabolic fluxes. Therapeutic treatment can be achieved either by decreasing the metabolic flux upstream of the block or by increasing the flux downstream of the block. The identification of upstream (...) and downstream fluxes however is not trivial, since metabolic reactions are intertwined in a complex network. To overcome this problem, we propose an innovative computational workflow to model the alteration of metabolism caused by IEM and predict the metabolites and reactions that are affected by the mutation. Our workflow exploits a recent genome-scale metabolic network model of hepatocyte metabolism to identify metabolites accumulating in hepatocytes due to single gene mutations in IEM via an innovative

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2013 Journal of Computational Biology

113. Drug treatment of inborn errors of metabolism: a systematic review. (PubMed)

Drug treatment of inborn errors of metabolism: a systematic review. The treatment of inborn errors of metabolism (IEM) has seen significant advances over the last decade. Many medicines have been developed and the survival rates of some patients with IEM have improved. Dosages of drugs used for the treatment of various IEM can be obtained from a range of sources but tend to vary among these sources. Moreover, the published dosages are not usually supported by the level of existing evidence

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2013 Archives of disease in childhood

114. Inborn Errors of Metabolism: Challenges and Management (PubMed)

Inborn Errors of Metabolism: Challenges and Management 24426231 2014 01 15 2018 11 13 0970-1915 28 4 2013 Oct Indian journal of clinical biochemistry : IJCB Indian J Clin Biochem Inborn errors of metabolism: challenges and management. 311-3 10.1007/s12291-013-0371-7 Das Subir Kumar SK College of Medicine & JNM Hospital, WBUHS, Kalyani, Nadia, 741235 West Bengal India. eng Journal Article India Indian J Clin Biochem 8708303 0970-1915 2014 1 16 6 0 2014 1 16 6 0 2014 1 16 6 1 ppublish 24426231

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2013 Indian Journal of Clinical Biochemistry

115. Patterns of inborn errors of metabolism: A 12 year single-center hospital-based study in Libya (PubMed)

Patterns of inborn errors of metabolism: A 12 year single-center hospital-based study in Libya Inborn errors of metabolism (IEM) are mostly transmitted as autosomal recessive disorders and are therefore more frequent in countries with high consanguinity rates such as in the Arab world.To study the socio-demographic characteristics and the clinical presentation of IEM in Libyan children and to shed light on our experience in dealing with these disorders.This is a descriptive case series hospital (...) -based study of 107 children attending the Metabolic Unit at El-Khadra Teaching Hospital (MUKH) in Tripoli, Libya. The study took place between January 2001 and December 2012. Information was collected from caregivers and from all available hospital records on the following variables: age, sex, birth order, place of residence, age at onset, presenting complaints and family history of the same illness.During the 12-year study period, there were 55,422 live births at El-Khadra Teaching Hospital and 107

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2013 Qatar Medical Journal

116. A rare inborn error of metabolism associated with a Dandy–Walker malformation (PubMed)

A rare inborn error of metabolism associated with a Dandy–Walker malformation 22700370 2013 09 16 2018 11 13 2240-2993 112 4 2012 Dec Acta neurologica Belgica Acta Neurol Belg A rare inborn error of metabolism associated with a Dandy-Walker malformation. 425-6 10.1007/s13760-012-0098-x Manel Limeme L Imaging Department of Farhat Hached Hospital, 4000 Sousse, Tunisia. limeme.manel@hotmail.com Houneida Zaghouani Ben Alaya ZB Habib Amara A Dejla Bakir B Chekib Kraiem K eng Case Reports Journal

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2012 Acta neurologica Belgica

117. Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China. (PubMed)

Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China. Tandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test. This 3-year pilot study investigated the screening, diagnosis, treatment and outcomes of IEM in symptomatic infants and children.All children encountered in the Newborn (...) Screening Center of Zhejiang Province during a 3-year period with symptoms suspicious for IEM were screened for metabolic diseases. Dried blood spots were collected and analyzed by tandem mass spectrometry. The diagnoses were further confirmed by clinical symptoms and biochemical analysis. Neonatal intrahepatic cholestasis caused by citrin deficiency, ornithine transcarbamylase deficiency and primary carnitine deficiency were confirmed by DNA analysis.A total of 11,060 symptomatic patients (6,720 boys

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2012 BMC Pediatrics

118. Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. (PubMed)

Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. Using microcell-mediated chromosome transfer and exome sequencing, we identified

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2012 Nature Genetics

119. Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework (PubMed)

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework Across all areas of health care, decision makers are in pursuit of what Berwick and colleagues have called the "triple aim": improving patient experiences with care, improving health outcomes, and managing health system impacts. This is challenging in a rare disease context, as exemplified by inborn errors of metabolism (...) . There is a need for evaluative outcomes research to support effective and appropriate care for inborn errors of metabolism. We suggest that such research should consider interventions at both the level of the health system (e.g., early detection through newborn screening, programs to provide access to treatments) and the level of individual patient care (e.g., orphan drugs, medical foods). We have developed a practice-based evidence framework to guide outcomes research for inborn errors of metabolism

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2012 Genetics in Medicine

120. Inborn Error of Small Molecule Metabolism

Inborn Error of Small Molecule Metabolism Inborn Error of Small Molecule Metabolism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 (...) Inborn Error of Small Molecule Metabolism Inborn Error of Small Molecule Metabolism Aka: Inborn Error of Small Molecule Metabolism II. Types Organic acid disorders Propionic acidemia Isovaleric acidemia Glutaric Acidemia Type I Beta-Ketothiolase deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency Carbohydrate metabolism defects See Amino acid metabolism and Urea Cycle defects Maple syrup urine disease Tyrosinemia Tryptophanuria Beta-alaninemia

2015 FP Notebook

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